Canonical Allele Identifier: CA645552563
Gene: CDKN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971187_21971189delinsAAA , CM000671.2:g.21971187_21971189delinsAAA GRCh38
NC_000009.11:g.21971186_21971188delinsAAA , CM000671.1:g.21971186_21971188delinsAAA GRCh37
NC_000009.10:g.21961186_21961188delinsAAA NCBI36
NG_007485.1:g.28303_28305delinsTTT , LRG_11:g.28303_28305delinsTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.170_172delinsTTT MANE Select ENSP00000307101.5:p.Ala57ValfsTer2
ENST00000404796.3:c.348-58246_348-58244delinsAAA ENSP00000385916.2:n.348-58246_348-58244delinsAAA
ENST00000579755.2:c.213_215delinsTTT MANE Plus Clinical ENSP00000462950.1:p.Pro72Leu
ENST00000304494.9:c.170_172delinsTTT ENSP00000307101.5:p.Ala57ValfsTer2
ENST00000361570.4:c.213_215delinsTTT ENSP00000355153.4:p.Pro72Leu
ENST00000380150.2:n.144_146delinsTTT
ENST00000380151.3:c.444_446delinsTTT ENSP00000369496.3:n.444_446delinsTTT
ENST00000404796.2:c.348-58246_348-58244delinsAAA ENSP00000385916.2:n.348-58246_348-58244delinsAAA
ENST00000479692.2:c.17_19delinsTTT ENSP00000466887.1:p.Ala6ValfsTer2
ENST00000494262.5:c.17_19delinsTTT ENSP00000464952.1:p.Ala6ValfsTer2
ENST00000497750.1:c.17_19delinsTTT ENSP00000468510.1:p.Ala6ValfsTer2
ENST00000498124.1:c.170_172delinsTTT ENSP00000418915.1:p.Ala57ValfsTer2
ENST00000498628.6:c.17_19delinsTTT ENSP00000467857.1:p.Ala6ValfsTer2
ENST00000530628.2:c.213_215delinsTTT ENSP00000432664.2:p.Pro72Leu
ENST00000578845.2:c.17_19delinsTTT ENSP00000467390.1:p.Ala6ValfsTer2
ENST00000579122.1:c.170_172delinsTTT ENSP00000464202.1:p.Ala57ValfsTer2
ENST00000579755.1:c.213_215delinsTTT ENSP00000462950.1:p.Pro72Leu
NM_000077.4:c.170_172delinsTTT , LRG_11t1:c.170_172delinsTTT NP_000068.1:p.Ala57ValfsTer2
NM_001195132.1:c.170_172delinsTTT NP_001182061.1:p.Ala57ValfsTer2
NM_058195.3:c.213_215delinsTTT , LRG_11t2:c.213_215delinsTTT NP_478102.2:p.Pro72Leu
NM_058197.4:c.444_446delinsTTT NP_478104.2:n.444_446delinsTTT
XM_005251343.1:c.17_19delinsTTT XP_005251400.1:p.Ala6ValfsTer2
XM_011517675.1:c.170_172delinsTTT XP_011515977.1:p.Ala57ValfsTer2
XM_011517676.1:c.170_172delinsTTT XP_011515978.1:p.Ala57ValfsTer2
XM_011517679.1:c.17_19delinsTTT XP_011515981.1:p.Ala6ValfsTer2
XR_929159.1:n.571_573delinsTTT
XR_929161.1:n.360_362delinsTTT
XR_929162.1:n.360_362delinsTTT
XR_929163.1:n.309_311delinsTTT
XR_929164.1:n.92_94delinsTTT
NM_001363763.1:c.17_19delinsTTT NP_001350692.1:p.Ala6ValfsTer2
XM_011517675.2:c.170_172delinsTTT XP_011515977.1:p.Ala57ValfsTer2
XM_011517676.2:c.170_172delinsTTT XP_011515978.1:p.Ala57ValfsTer2
XR_929159.2:n.500_502delinsTTT
NM_001363763.2:c.17_19delinsTTT NP_001350692.1:p.Ala6ValfsTer2
NM_000077.5:c.170_172delinsTTT MANE Select NP_000068.1:p.Ala57ValfsTer2
NM_001195132.2:c.170_172delinsTTT NP_001182061.1:p.Ala57ValfsTer2
NM_058195.4:c.213_215delinsTTT MANE Plus Clinical NP_478102.2:p.Pro72Leu
NM_058197.5:c.*93_*95delinsTTT NP_478104.2:n.*93_*95delinsTTT